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dbVar

Database of genomic structural variation

nsv3894920

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:777,490

Description:GRCh37/hg19 19p12(chr19:22867705-23645194)x4 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 3596 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):22,684,903-23,462,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3894920	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	22,684,903	23,462,392
nsv3894920	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	22,867,705	23,645,194

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15131547	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000598637.2, VCV000503594.2	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15131547	Remapped	Perfect	NC_000019.10:g.(?_ 22684903)_(2346239 2_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	22,684,903	23,462,392
nssv15131547	Submitted genomic		NC_000019.9:g.(?_2 2867705)_(23645194 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	22,867,705	23,645,194

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15131547	GRCh37: NC_000019.9:g.(?_22867705)_(23645194_?)dup	copy number gain	unknown	See cases	Uncertain significance	ClinVar	RCV000598637.2, VCV000503594.2	4

No genotype data were submitted for this variant

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